▲Professor Beom Hee Lee from Medical Genetics Center of Asan Medical Center is consulting a patient with plexiform neurofibroma

Neurofibromatosis type 1, the most common form of neurofibromatosis, is a rare genetic disorder characterized by abnormalities in the skin and central nervous system. It affects approximately 1 in 3,000 individuals, with an estimated 10,000 patients in South Korea. The typical symptom is plexiform neurofibromas, irregularly shaped, firm tumors that are often inoperable. In these cases, a drug containing ‘selumetinib’ is used. South Korea’s first research results on the efficacy of selumetinib in treating plexiform neurofibromas were recently published, marking the world's first research findings on adult patients.

▲(From left)Professors Beom Hee Lee from Medical Genetics Center, Young Shin Ra of the Department of Neurosurgery, Hyery Kim of the Division of Pediatric Hematology and Oncology, and Hee Mang Yoon of the Department of Radiology at Asan Medical Center

A research team led by Professors Beom Hee Lee of the Department of Pediatrics, Young Shin Ra of the Department of Neurosurgery, Hyery Kim of the Division of Pediatric Hematology and Oncology, and Hee Mang Yoon of the Department of Radiology at Asan Medical Center analyzed the treatment outcomes of 89 patients who started receiving selumetinib for plexiform neurofibromas between May 2019 and December 2021, with follow-up periods of up to 104 weeks. The analysis showed an average tumor size reduction of about 41%. Among the 89 patients, 59 pediatric patients had a reduction of approximately 39%, while 30 adult patients experienced a reduction of about 42%.

Also, the research team was the first to report on the therapeutic effects of selumetinib on neurocognitive function decline, café-au-lait spots, and growth retardation caused by neurofibromatosis. Neurocognitive assessments using the Wechsler scales showed significant improvements in perceptual reasoning and intelligence quotients in both pediatric and adult patients. Café-au-lait spots faded by more than 30%, and the annual growth rate increased from an average of 5.8 cm to about 8.2 cm.

These findings were recently published in the international journal ‘Neuro-Oncology’.